CDKN2D
Description
The CDKN2D (cyclin dependent kinase inhibitor 2D) is a protein-coding gene located on chromosome 19.
Cyclin-dependent kinase 4 inhibitor D is an enzyme encoded by the CDKN2D gene in humans. It belongs to the INK4 family of cyclin-dependent kinase inhibitors and forms a stable complex with CDK4 or CDK6, preventing their activation. This function makes it a cell growth regulator controlling cell cycle G1 progression. The gene's transcript abundance fluctuates in a cell-cycle-dependent manner, with lowest expression at mid G1 and peak expression during S phase. Its role in repressing neuronal proliferation and spermatogenesis highlights its negative regulation of the cell cycle. The protein, p19, is found in neurons with neurofibrillary tangles (NFTs) and is suggested as a marker for senescent neurons. Two alternatively spliced variants of this gene, encoding the same protein, have been reported. Note, this protein should not be confused with p19-ARF (mouse) or its human equivalent p14ARF, which are alternative products of the CDKN2A gene.
CDKN2D is also known as INK4D, p19, p19-INK4D.
Associated Diseases
- Parkinson disease
- multiple sclerosis
- lysosomal storage disease
- Alzheimer disease
- endometrial cancer
- ovarian cancer
- male infertility with teratozoospermia due to single gene mutation
- hearing loss, autosomal recessive
- partial chromosome Y deletion
- spermatogenic failure, X-linked, 2
